rdf:type |
|
lifeskim:mentions |
|
pubmed:issue |
2
|
pubmed:dateCreated |
1986-10-23
|
pubmed:abstractText |
Glucocerebrosidase is present in considerable amounts in human urine. The enzyme is stable in concentrated urine for several days when stored at 0 degrees C. Like tissue glucocerebrosidase, the urinary enzyme is inhibited by conduritol B-epoxide and hydrolyses not only glucocerebroside but also the synthetic substrate 4-methyl-umbelliferyl-beta-D-glucoside. The enzyme is deficient in urine from patients with Gaucher disease (type 1). It is possible to discriminate completely between patients with type 1 Gaucher disease and control subjects by measuring the ratio glucocerebrosidase/beta-hexosaminidase in urine. The value of this ratio (mean +/- SE) with the synthetic substrates 4-methylumbelliferyl-beta-glucoside and p-nitrophenyl-beta-N-acetylglucosaminide, respectively, was 34.2 +/- 3.7 (n = 24) in the controls and 2.1 +/- 0.9 (n = 21) in the patients.
|
pubmed:language |
eng
|
pubmed:journal |
|
pubmed:citationSubset |
IM
|
pubmed:chemical |
|
pubmed:status |
MEDLINE
|
pubmed:month |
Jul
|
pubmed:issn |
0009-8981
|
pubmed:author |
|
pubmed:issnType |
Print
|
pubmed:day |
30
|
pubmed:volume |
158
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
155-63
|
pubmed:dateRevised |
2007-11-15
|
pubmed:meshHeading |
pubmed-meshheading:2943536-Adolescent,
pubmed-meshheading:2943536-Adult,
pubmed-meshheading:2943536-Child,
pubmed-meshheading:2943536-Female,
pubmed-meshheading:2943536-Gaucher Disease,
pubmed-meshheading:2943536-Glucosidases,
pubmed-meshheading:2943536-Glucosides,
pubmed-meshheading:2943536-Glucosylceramidase,
pubmed-meshheading:2943536-Hexosaminidases,
pubmed-meshheading:2943536-Humans,
pubmed-meshheading:2943536-Hymecromone,
pubmed-meshheading:2943536-Inositol,
pubmed-meshheading:2943536-Male,
pubmed-meshheading:2943536-Middle Aged,
pubmed-meshheading:2943536-Substrate Specificity,
pubmed-meshheading:2943536-beta-N-Acetylhexosaminidases
|
pubmed:year |
1986
|
pubmed:articleTitle |
Deficient activity of glucocerebrosidase in urine from patients with type 1 Gaucher disease.
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|